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  1. Book ; Thesis: Molecular pathology and genetic diagnostics of steroid 21-hydroxylase deficiency

    Wedell, Anna

    1994  

    Author's details av Anna Wedell
    Language English
    Size Getr. Zählung : Ill., graph. Darst.
    Publishing country Sweden
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Stockholm, Karolinska Inst., Diss., 1994
    HBZ-ID HT006393563
    ISBN 91-628-1132-0 ; 978-91-628-1132-7
    Database Catalogue ZB MED Medicine, Health

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    94 E 1835 order for loan Magazin

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  2. Article ; Online: Introduction to the ECR special issue on rare diseases.

    Wedell, Anna

    Experimental cell research

    2014  Volume 325, Issue 1, Page(s) 1

    MeSH term(s) Humans ; Rare Diseases/genetics ; Rare Diseases/immunology ; Rare Diseases/physiopathology
    Language English
    Publishing date 2014-07-01
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1493-x
    ISSN 1090-2422 ; 0014-4827
    ISSN (online) 1090-2422
    ISSN 0014-4827
    DOI 10.1016/j.yexcr.2014.03.007
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: 2013 års Nobelpris i fysiologi eller medicin. Nobelpristagarna har utforskat komplicerat transportsystem.

    Wedell, Anna

    Lakartidningen

    2013  Volume 110, Issue 42, Page(s) 1856–1857

    Title translation 2013 Nobel Prize in Physiology or Medicine. The Nobel laureates have explored a complicated transport system.
    MeSH term(s) Carrier Proteins/metabolism ; Endoplasmic Reticulum/metabolism ; History, 20th Century ; Humans ; Nobel Prize ; Transport Vesicles/metabolism ; United States
    Chemical Substances Carrier Proteins
    Language Swedish
    Publishing date 2013-10
    Publishing country Sweden
    Document type Biography ; Historical Article ; Journal Article
    ZDB-ID 391010-6
    ISSN 1652-7518 ; 0023-7205
    ISSN (online) 1652-7518
    ISSN 0023-7205
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  4. Article ; Online: Human In Vitro Models of Neuroenergetics and Neurometabolic Disturbances: Current Advances and Clinical Perspectives.

    Rogal, Julia / Zamproni, Laura Nicoleti / Nikolakopoulou, Polyxeni / Ygberg, Sofia / Wedell, Anna / Wredenberg, Anna / Herland, Anna

    Stem cells translational medicine

    2024  

    Abstract: Neurological conditions conquer the world; they are the leading cause of disability and the second leading cause of death worldwide, and they appear all around the world in every age group, gender, nationality, and socioeconomic class. Despite the ... ...

    Abstract Neurological conditions conquer the world; they are the leading cause of disability and the second leading cause of death worldwide, and they appear all around the world in every age group, gender, nationality, and socioeconomic class. Despite the growing evidence of an immense impact of perturbations in neuroenergetics on overall brain function, only little is known about the underlying mechanisms. Especially human insights are sparse, owing to a shortage of physiologically relevant model systems. With this perspective, we aim to explore the key steps and considerations involved in developing an advanced human in vitro model for studying neuroenergetics. We discuss biological and technological strategies to meet the requirements of a predictive model, aiming at providing a guide and inspiration for future in vitro models of neuroenergetics.
    Language English
    Publishing date 2024-04-08
    Publishing country England
    Document type Journal Article
    ZDB-ID 2642270-0
    ISSN 2157-6580 ; 2157-6580
    ISSN (online) 2157-6580
    ISSN 2157-6580
    DOI 10.1093/stcltm/szae021
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  5. Article ; Online: Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.

    Henry, Olivia J / Stödberg, Tommy / Båtelson, Sofia / Rasi, Chiara / Stranneheim, Henrik / Wedell, Anna

    Molecular genetics & genomic medicine

    2023  Volume 11, Issue 7, Page(s) e2167

    Abstract: Background: The majority of genetic epilepsies remain unsolved in terms of specific genotype. Phenotype-based genomic analyses have shown potential to strengthen genomic analysis in various ways, including improving analytical efficacy.: Methods: We ... ...

    Abstract Background: The majority of genetic epilepsies remain unsolved in terms of specific genotype. Phenotype-based genomic analyses have shown potential to strengthen genomic analysis in various ways, including improving analytical efficacy.
    Methods: We have tested a standardised phenotyping method termed 'Phenomodels' for integrating deep-phenotyping information with our in-house developed clinical whole exome/genome sequencing analytical pipeline. Phenomodels includes a user-friendly epilepsy phenotyping template and an objective measure for selecting which template terms to include in individualised Human Phenotype Ontology (HPO) gene panels. In a pilot study of 38 previously solved cases of developmental and epileptic encephalopathies, we compared the sensitivity and specificity of the individualised HPO gene panels with the clinical epilepsy gene panel.
    Results: The Phenomodels template showed high sensitivity for capturing relevant phenotypic information, where 37/38 individuals' HPO gene panels included the causative gene. The HPO gene panels also had far fewer variants to assess than the epilepsy gene panel.
    Conclusion: We have demonstrated a viable approach for incorporating standardised phenotype information into clinical genomic analyses, which may enable more efficient analysis.
    MeSH term(s) Humans ; Exome ; Pilot Projects ; Epilepsy, Generalized/genetics ; Phenotype ; Epilepsy/genetics
    Language English
    Publishing date 2023-03-26
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2734884-2
    ISSN 2324-9269 ; 2324-9269
    ISSN (online) 2324-9269
    ISSN 2324-9269
    DOI 10.1002/mgg3.2167
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  6. Article ; Online: Congenital adrenal hyperplasia.

    Wedell, Anna

    Clinical biochemistry

    2011  Volume 44, Issue 7, Page(s) 505–506

    MeSH term(s) 17-alpha-Hydroxyprogesterone/analysis ; Adrenal Glands/metabolism ; Adrenal Glands/physiopathology ; Adrenal Hyperplasia, Congenital/diagnosis ; Adrenal Hyperplasia, Congenital/genetics ; Adrenal Hyperplasia, Congenital/metabolism ; Biomarkers/analysis ; Blotting, Southern ; Cholesterol/metabolism ; Exons ; Genes, Recessive ; Humans ; Hydrocortisone/analysis ; Hydrocortisone/biosynthesis ; Infant, Newborn ; Introns ; Isoenzymes/genetics ; Isoenzymes/metabolism ; Multiplex Polymerase Chain Reaction/methods ; Mutation ; Neonatal Screening ; Severity of Illness Index ; Steroid 21-Hydroxylase/genetics ; Steroid 21-Hydroxylase/metabolism
    Chemical Substances Biomarkers ; Isoenzymes ; 17-alpha-Hydroxyprogesterone (68-96-2) ; Cholesterol (97C5T2UQ7J) ; CYP21A2 protein, human (EC 1.14.14.16) ; Steroid 21-Hydroxylase (EC 1.14.14.16) ; Hydrocortisone (WI4X0X7BPJ)
    Language English
    Publishing date 2011-05-12
    Publishing country United States
    Document type Journal Article
    ZDB-ID 390372-2
    ISSN 1873-2933 ; 0009-9120
    ISSN (online) 1873-2933
    ISSN 0009-9120
    DOI 10.1016/j.clinbiochem.2011.02.026
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  7. Article ; Online: Cost-Effectiveness of Newborn Screening for Phenylketonuria and Congenital Hypothyroidism.

    Appelberg, Kajsa / Sörensen, Lene / Zetterström, Rolf H / Henriksson, Martin / Wedell, Anna / Levin, Lars-Åke

    The Journal of pediatrics

    2022  Volume 256, Page(s) 38–43.e3

    Abstract: Objective: To evaluate the long-term costs and health effects of the Swedish newborn screening program for classic phenylketonuria (PKU) alone and in combination with congenital hypothyroidism compared with no screening.: Study design: A decision- ... ...

    Abstract Objective: To evaluate the long-term costs and health effects of the Swedish newborn screening program for classic phenylketonuria (PKU) alone and in combination with congenital hypothyroidism compared with no screening.
    Study design: A decision-analytic model was developed to estimate and compare the long-term (80 years) costs and health effects of newborn screening for PKU and congenital hypothyroidism. Data were obtained from the literature and translated to Swedish conditions. A societal perspective was taken, including costs falling on health care providers, municipal care and services, as well as production loss due to morbidity.
    Results: Screening 100 000 newborns for PKU resulted in 73 gained quality-adjusted life-years (QALYs) compared with no screening. When adding congenital hypothyroidism, the number of gained QALYs was 232 compared with PKU alone, adding up to a total of 305 QALYs gained. Corresponding cost estimates were $80.8, $70.3, and $10.05 million USD for no screening, PKU screening, and PKU plus congenital hypothyroidism screening, respectively, indicating that screening for PKU plus congenital hypothyroidism was more effective and less costly compared with the other strategies. The majority of cost savings with PKU plus congenital hypothyroidism screening was due to reductions in productivity losses and municipal care and services costs.
    Conclusion: The Swedish newborn screening program for PKU and congenital hypothyroidism saves substantial costs for society while generating additional QALYs, emphasizing the importance of public investments in early diagnosis and treatment.
    MeSH term(s) Infant, Newborn ; Humans ; Congenital Hypothyroidism/diagnosis ; Neonatal Screening/methods ; Cost-Benefit Analysis ; Phenylketonurias/diagnosis ; Quality-Adjusted Life Years
    Language English
    Publishing date 2022-12-07
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 3102-1
    ISSN 1097-6833 ; 0022-3476
    ISSN (online) 1097-6833
    ISSN 0022-3476
    DOI 10.1016/j.jpeds.2022.10.046
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  8. Article ; Online: Molecular genetics of 21-hydroxylase deficiency.

    Wedell, Anna

    Endocrine development

    2010  Volume 20, Page(s) 80–87

    Abstract: More than 95% of all cases of congenital adrenal hyperplasia are caused by deficiency of steroid 21-hydroxylase, an enzyme encoded by the CYP21A2 gene. The severity of the clinical symptoms varies according to the level of residual 21-hydroxylase ... ...

    Abstract More than 95% of all cases of congenital adrenal hyperplasia are caused by deficiency of steroid 21-hydroxylase, an enzyme encoded by the CYP21A2 gene. The severity of the clinical symptoms varies according to the level of residual 21-hydroxylase activity. The CYP21A2 gene is located in the HLA class III region, as a component of so called RCCX modules containing homologous genes repeated in tandem. Misalignment followed by unequal crossing over as well as gene conversion events result in a high degree of variation in gene copy number as well as gene sequence in this genomic region. The presence of a highly homologous pseudogene, CYP21A1P, forms the basis for the relatively high incidence of 21- hydroxylase deficiency as deleterious sequences can be transferred from CYP21A1P to CYP21A2. Despite the complexity of the locus, safe approaches for genotyping are established, and genotype phenotype relationships have been documented making genotyping a valuable complement to biochemical investigations in the diagnostics of 21-hydroxylase deficiency. This is of particular importance in relation to family investigations and neonatal screening.
    MeSH term(s) Adrenal Hyperplasia, Congenital/diagnosis ; Adrenal Hyperplasia, Congenital/genetics ; Genetic Association Studies ; Humans ; Infant, Newborn ; Models, Biological ; Molecular Biology/methods ; Molecular Diagnostic Techniques/methods ; Mutation/physiology ; Neonatal Screening/methods ; Steroid 21-Hydroxylase/analysis ; Steroid 21-Hydroxylase/genetics
    Chemical Substances CYP21A2 protein, human (EC 1.14.14.16) ; Steroid 21-Hydroxylase (EC 1.14.14.16)
    Language English
    Publishing date 2010-12-16
    Publishing country Switzerland
    Document type Journal Article ; Review
    ISSN 1662-2979 ; 1421-7082
    ISSN (online) 1662-2979
    ISSN 1421-7082
    DOI 10.1159/000321223
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  9. Article ; Online: The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases.

    Erdinc, Direnis / Macao, Bertil / Valenzuela, Sebastian / Lesko, Nicole / Naess, Karin / Peter, Bradley / Bruhn, Helene / Wedell, Anna / Wredenberg, Anna / Falkenberg, Maria

    Biochimica et biophysica acta. Molecular basis of disease

    2023  Volume 1869, Issue 7, Page(s) 166786

    Abstract: Mutations in the catalytic domain of mitochondrial DNA polymerase γ (POLγ) cause a broad spectrum of clinical conditions. POLγ mutations impair mitochondrial DNA replication, thereby causing deletions and/or depletion of mitochondrial DNA, which in turn ... ...

    Abstract Mutations in the catalytic domain of mitochondrial DNA polymerase γ (POLγ) cause a broad spectrum of clinical conditions. POLγ mutations impair mitochondrial DNA replication, thereby causing deletions and/or depletion of mitochondrial DNA, which in turn impair biogenesis of the oxidative phosphorylation system. We here identify a patient with a homozygous p.F907I mutation in POLγ, manifesting a severe clinical phenotype with developmental arrest and rapid loss of skills from 18 months of age. Magnetic resonance imaging of the brain revealed extensive white matter abnormalities, Southern blot of muscle mtDNA demonstrated depletion of mtDNA and the patient deceased at 23 months of age. Interestingly, the p.F907I mutation does not affect POLγ activity on single-stranded DNA or its proofreading activity. Instead, the mutation affects unwinding of parental double-stranded DNA at the replication fork, impairing the ability of the POLγ to support leading-strand DNA synthesis with the TWINKLE helicase. Our results thus reveal a novel pathogenic mechanism for POLγ-related diseases.
    MeSH term(s) DNA Polymerase gamma/genetics ; DNA Replication ; DNA, Mitochondrial/genetics ; DNA-Directed DNA Polymerase/genetics ; DNA-Directed DNA Polymerase/metabolism ; Mutation ; Humans ; Infant
    Chemical Substances DNA Polymerase gamma (EC 2.7.7.7) ; DNA, Mitochondrial ; DNA-Directed DNA Polymerase (EC 2.7.7.7)
    Language English
    Publishing date 2023-06-10
    Publishing country Netherlands
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 60-7
    ISSN 1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    ISSN (online) 1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650
    ISSN 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    DOI 10.1016/j.bbadis.2023.166786
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  10. Article ; Online: Helgenomanalys vid sällsynta diagnoser ger stor patientnytta.

    Johansson Soller, Maria / Nordgren, Ann / Ehrencrona, Hans / Lovmar, Lovisa / Wedell, Anna / Lindstrand, Anna

    Lakartidningen

    2021  Volume 118

    Abstract: If a disease affects fewer than 1 in 2 000, the European Union defines it as a rare disease. Globally, about 300 million people live with a rare disease, and in Sweden about 400 000. There are approximately 7 000 different rare diseases. The clinical ... ...

    Title translation The utility of whole genome sequencing in rare disease diagnostics.
    Abstract If a disease affects fewer than 1 in 2 000, the European Union defines it as a rare disease. Globally, about 300 million people live with a rare disease, and in Sweden about 400 000. There are approximately 7 000 different rare diseases. The clinical picture varies from a single symptom to complex patterns with multiple organs affected, often combined with cognitive and motor impairment. At least 72 % of all rare diseases are genetic and 70% have childhood onset. Many patients are undiagnosed and do not receive optimal treatment. Today, only 5% of rare diseases have an approved treatment option. With modern genetic high throughput techniques, many disease-causing mutations are identified, increasing the possibility of personalized treatment and prevention strategies, designed by the individual's genetic conditions, i.e. precision medicine.
    MeSH term(s) Humans ; Precision Medicine ; Rare Diseases/diagnosis ; Rare Diseases/genetics ; Sweden ; Whole Genome Sequencing
    Language Swedish
    Publishing date 2021-05-10
    Publishing country Sweden
    Document type Journal Article
    ZDB-ID 391010-6
    ISSN 1652-7518 ; 0023-7205
    ISSN (online) 1652-7518
    ISSN 0023-7205
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